A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, l...

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Veröffentlicht in:	Nature genetics 2007-04, Vol.39 (4), p.451-453
Hauptverfasser:	Friez, Michael J, Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution - genetics Arginine - genetics Biological and medical sciences Complex syndromes Complications and side effects Diagnosis Family Female Fundamental and applied biological sciences. Psychology Gene mutations Genes Genetic Diseases, X-Linked - genetics Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Humans Intellectual Disability - genetics Male Mediator Complex Medical genetics Medical sciences Muscle Hypotonia - genetics Mutation Pedigree Proteins Receptors, Thyroid Hormone - genetics Risk factors Syndrome Thyroid Thyroid gland Tryptophan - genetics
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Zusammenfassung:	Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1992